A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929228



Internal ID20195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:18027973..18028024hg38UCSC Ensembl
chr3:18069465..18069516hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396567
Supporting Variants
Samples
Known GenesLOC339862
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929228
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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